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Methylmalonic aciduria and homocystinuria type D protein

Involved in cobalamin metabolism .

Below are the list of possible Methylmalonic aciduria and homocystinuria type D protein products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.

Methylmalonic aciduria and homocystinuria type D protein

 Methylmalonic aciduria and homocystinuria type D protein ELISA Kit
 Methylmalonic aciduria and homocystinuria type D protein Recombinant
 Methylmalonic aciduria and homocystinuria type D protein Antibody
Also known as Methylmalonic aciduria and homocystinuria type D protein, mitochondrial (CblD).
MMADHC: Involved in cobalamin metabolism. Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD). A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some ha
ve only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).

Chromosomal Location of Human Ortholog: 2q23.2

Cellular Component: cytoplasm; cytosol; mitochondrion

Molecular Function: protein binding

Biological Process: cobalamin metabolic process; coenzyme biosynthetic process

Disease: Methylmalonic Aciduria And Homocystinuria, Cbld Type
 MMADHC Recombinant
 MMADHC Antibody
 C2orf25 ELISA Kit
 C2orf25 Recombinant
 C2orf25 Antibody
 CL25022 ELISA Kit
 CL25022 Recombinant
 CL25022 Antibody
 HSPC161 Recombinant
 HSPC161 Antibody
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